Rare Disease Library

Autosomal recessive omodysplasia

Micromelic dysplasia-dislocation of radius syndrome

Colobomatous microphthalmia-rhizomelic dysplasia syndrome

Microphthalmia-coloboma-rhizomelic skeletal dysplasia

Dislocation of the hip-dysmorphism syndrome

Collins-Pope syndrome

Distal Xq28 microduplication syndrome

Int22h1/Int22h2 mediated-Xq28 microduplication syndrome · Distal dup(X)q(28)

Thanatophoric dysplasia type 2

Cloverleaf skull-micromelic bone dysplasia syndrome · TD2

Ulbright-Hodes syndrome

Renal dysplasia-limb defects syndrome · Renal dysplasia-mesomelia-radiohumeral fusion syndrome